Many of the anatomic and physiologic complexities of the cleft lip and its variations have been recognized for centuries. By definition, the primary palate consists of

1. premaxilla,

2. anterior septum, and

3. soft tissue of the lip.

The secondary palate is separated from the primary palate by the incisive foramen. The secondary palate consists of structures posterior to the incisive foramen, including the

1. remaining hard palate, and

2. soft palate and

3. the uvula.

The cleft lip may be unilateral or bilateral, complete or incomplete, right or left side and sporadic or associated with syndromes. Virtually every conceivable combinational and permutation of facial clefting is possible. Generally, every classification system is based on anatomy, which in turn depends on embryology. Cleft of the lip (with or without of cleft palate) must be distinguish from ‘cleft palate only’ because of the embryogenesis of these entities is believed to be entirely different.

Embriology

Craniofacial structures arise from the growth and fusion of a number independent primordia whose initial organization is much simpler. At the cellular level, craniofacial tissues are derived from two broad-based lineages, neural crest and the cephalic mesoderm. Neural crest cells posses a repertoire of developmental programs rivaled only by the mesoderm. For example, neural crest cells give rise not only to neuronal and meningeal tissues but also to several skeletal components of the head. At the level of organization of tissues, craniofacial morphogenesis is uniquely characterized by massive relocation of cells, caused by both active cell migration and passive displacement.

The fourth to eight weeks are significant period during development because precursors of all the major organs develop during this time. In addition rapid growth, the embryo undergoes dramatic changes in shapes. The brain expands significantly during this period, resulting in a prominent folding of the head, and cervical flexure becomes obvious and gives the embryo its characteristic C appearance. Perhaps most critical to the development of craniofacial structures is the formation of five branchial arches.

The first two branchial arches are most closely associated with development of face and cranium. The first arch develops into the maxilla and mandible. The muscle of the facial expression and mastication and other striated muscles in the head and neck are also derived from mesoderm in the first and second arches. Trigeminal and facial nerves originate from and supply structures derived from neural crest cell in the first and second arches.

The face proper is composed of four primordia:

1. midline frontonasal (median nasal) process, which gives rise to the forehead, midline of the nose, philtrum, and primary palate;

2. the maxillary processes (max), which contribute to the sides of the face, the upper lip, and the secondary palates;

3. the lateral nasal processes (lnp), which give rise to nares; and

4. the mandibular processes (man), which forms the lower jaw and lip.

The facial primordia must come into contact and fuse in a timely manner to establish the normal facial architecture. Fusion is therefore intimately linked to the proliferation and differentiation of cells in each primordium.

By the end of the eighth week, the head, face, hands, and feet are suggestive as to species recognition but not yet definitive. The ectoderm is well around the stomodeum (st) by the fourth week of embryonic development and contributes to the formation of the face. In addition, the ectoderm around the stomodeum participates in the formation of the nasal and oral cavities. The mesenchyme that fills the pharyngeal arches is derived from 3 origins, paraxial mesoderm, lateral plate mesoderm, and neural crest cells. While paraxial mesoderm and lateral plate mesoderm contribute to the musculature that develops in each particular arch, neural crest cells contribute to the skeletal portion of each arch.

The lower jaw develops from the paired mandibular primordia (mandibular prominences). Paired maxillary and mandibular prominences are derivatives of the first pair of branchial or pharyngeal arches. All these prominences are produced by the proliferation of the neural crest cells that migrated into the arches from the neural crest during the fourth week. The neural crest cells give rise to the connective tissue components, including cartilage, bone, and ligaments in the facial and oral regions. The myogenic cells of the muscles constitute a separate cell lineage. These cells originate from the paraxial mesoderm and also migrate into the facial primordia.

Formation of primary palate

The median nasal processes gives rise to the primary palate. Interruptions in the rate, the timing, or the extent of proliferation in the frontonasal primordia lead to a failure in the epithelial fusion and subsequently the formation of a cleft. In patients with mild defects, cleft may be limited to a notch in the vermillion border of the lips, which probably represents a failure of localized growth of the median nasal processes. In patients with severe defects, cleft is through the tissue of the lip and can occur either unilaterally or bilaterally. In these patients, the cleft occurs because of a failure of fusion between the median nasal and maxillary processes. Although rare, clefts can also involve the side of the face.

Formation of secondary palate

The secondary palate is a structure that separates the nasal passage from the pharynx and arises from condensations of neural mesenchyme within the maxillary primordia. These condensations undergo intramemranous ossification to form the palatal shelves, which initially extend vertically on either side of the tongue and subsequently rotate to a horizontal plane dorsal to the tongue. Initially, the shelves are lined by an epithelium that is two cell layers thick. Before fusion of palatal shelves, the outer peridermal layer is sloughed off, leaving the basal epithelial layer.

The shelves grow to midline, and medial edge of epithelium of each shelf approximates and forms the midline epithelial seam. This seam is subsequently disrupted, which leads to mesenchymal confluence between the two shelves. Perturbations caused by genetic, mechanical, or teratogenic factors can occur at any of these steps and frequently result in a cleft secondary palate.

Central and foremost, the multidisiplinary approach is essential to the satisfactory treatment of the cleft patient. These includes;

• plastic surgeon

• pediatrician

• pedodonitst, prosthodontist

• ortodontist

• ENT

• psychologist

• speech pathologist

• social workers

• nurse coordinator.

Prenatal diagnosis

Ultrasound examination for the diagnosis of prenatal anomalies and problems related to the fetus is common in many countries. Prenatal diagnosis of cleft lip is usually made in second and third trimester. A prenatal diagnosis of clef lip is made in approximately half of the new clefts. Prenatal diagnosis is related to the development of cleft lip surgery; fetal surgery results are less scarring and can be endoscopically performed. Fetal surgery has as yet been adopted only in rare case and is not accepted procedures.

Genetics

The genetics of orofacial clefting are only partially understood but are of great importance counseling of affected families. It has long been assumed that both genetic and environmental factors play important roles in the etiopathology of clefts, this is supported by varying incidence of clefting with ethnicity, geographic locations, and socioeconomic conditions.

Most common congenital malformation of Head and Neck

o Amerindian 3,6 / 1000

o Japanese 2,1 / 1000

o African American 0,3 / 1000

o Turkiye 1 / 1000

Epidemiology

There are more than 250 syndromes associated with orofacial clefts. It is generally considered that most cases occurs an isolated abnormality, so-called non-syndromic cleft lip/palate.

Syndromic CL/P (associated with more than 250 malformations);

· Trisomies 13,18,21,

· Stickler’s

Nonsyndromic CL/P

Most appropriate genetic model for the inheritance pattern of nonsyndromic cleft lip/palate is a matter of debate, and consensus has not been achieved. Classically, cleft lip/palate was transmitted by a gene of variable penetrance that could act dominantly or recessively, depending on the individual. Multifactorial models have been widely advanced and have predominated.

Syndromic CL/P

Single Gene Transmission (trisomies 21, 13, 18)

Teratogenesis

fetal alcohol syndrome

thalidomide

Environmental factors

1. materal diabetes

2. amniotic band syndrome

3. fenitoin

4. rubella

5. x-ray

6. folic acid deficiency

7. smoking

8. Vit-A excess or deficiency

9. steroids

10. aminopterin

11. busulfan

12. salicilats

Fetal alcohol syndrome

Characterized by growth retardation, mental retardation, delayed motor development, irritability, facial abnormalities: abnormal eyelid structures, incomplete development of facial structures, abnormal upper lip growth retardation and failure to thrive misc. cardiac, renal, and skeletal abnormality.

Males predominate within the CL/P group (60-80% of cases), while females constitute the majority within the CP group. CLP deformity is strongly associated with bilateral CLs (86% of cases); the association decreases to 68% with unilateral CL. The left side is most commonly involved in unilateral CL cases. In relatives of children with CLP, the incidence of CLP is significantly increased.

Unaffected parents who have

One child with cleft/palate have an estimated recurrence risk of % 4

Two affected children have an estimated recurrence risk of % 9

First, second, and third degree relatives have risk of % 4, % 0,7, % 0,3

However, the isolated CP anomaly occurs with the same frequency as that in the general population.

Classification

Veau suggested that all clefts be classified into four groups:

Veau Classification - 1931

Veau Class I: isolated soft palate cleft

Veau Class II: isolated hard and soft palate

Veau Class III: unilateral CLP

Veau Class IV: bilateral CLP

The upper limbs represent right and left side of the primary palate that is the lip, hard palate anterior to the incisive foramen, and the alveolus. The lower limb represents the hard and soft palate posterior to the incisive foramen. Y classification was modified into a better numeric system that allows a more accurate recording of primary and secondary palate and easily adapted to the computer.
 

Deficiencies of soft tissue, cartilage, and bone in cleft patients are difficult to evaluate accurately. There is an obvious difference in the availability of soft tissue (skin and muscle).

Cleft palate

The incisive foramen is the key landmark in the bony palate . The premaxilla lies anterior to the incisive foramen and includes the 2 premaxillary bones: the alveolus and the incisors. Posterior to the incisive foramen lies the secondary palate, comprising the hard palate and soft palate. The hard palate forms from the palatine processes of the maxilla anteriorly and the palatine bones posteriorly. Posterior to the bony hard palate lies the soft palate.

The soft palate plays an important role in

1. speech and

2. swallowing.

Paired muscle on both sides of the midline form the musculature of the soft palate. The levator veli palatini is the most important muscle for the production of speech and velopharyngeal competence. The paired muscles of the soft palate function as a sling from their origin at the undersurface of the temporal bone to their aponeurosis across the midline, as they elevate the soft palate toward the posterior pharyngeal wall. The palatopharyngeus further supplements the posterior movement of the soft palate.

Contraction of the superior pharyngeal constrictor contributes to closure of the velopharyngeal opening at the lateral and posterior pharyngeal wall.

The primary function of the tensor veli palatini is to dilate the eustachian tube and to maintain its integrity. The uvular muscle is thought to have a minimal contribution to normal speech.

Clefts of the secondary palate may be

1. isolated or

2. associated with clefts of the primary palate.

While clefts of the secondary palate are midline defects , those involving the primary palate usually are asymmetric with the vomer attached to the noncleft side. The dental arch on the noncleft side usually splays outward due to the lack of restraining force from the lip, and the palate is foreshortened in the anteroposterior direction. In the case of complete bilateral clefts, the entire premaxilla protrudes from the adjacent alveolar ridges.

Because of the collapse of the palatine shelves posterior to the premaxilla and its possible rotation, the premaxilla is prevented from rejoining the arch and is left attached solely to the vomer. Soft tissue defects of the CP include hypoplasia of the velar musculature in addition to anomalous insertions of its muscular components . The normal midline insertion and transverse orientation of the levator palatini is substituted by an aberrant longitudinal orientation and insertion along the bony cleft margin and posterior palatine bones. Other palatal muscles are affected similarly. Dysfunction results in speech pathology with velopharyngeal incompetence and in eustachian-tube obstruction with resultant middle-ear effusion, infections, and possible hearing loss.

Preoperative details

Parents who suddenly are faced with caring for a child with a facial cleft are overwhelmed. The importance of spending sufficient time with them to allay their fears, to discuss staging and timing of reconstruction, to stress the need for involvement of other specialists, and to instruct them on the importance of long-term and consistent follow-up care from birth through adolescence cannot be overemphasized.

While the lip repair is the initial focus for many parents, treatment begins by assessing the child's nutritional status and assisting the parents with oral feeding techniques so that appropriate weight gain occurs. A baby with cleft lip or cleft palate may have problems eating. This can be a big problem, especially for a newborn baby. Normally, the palate prevents food and liquids from going up your nose. There is a hole between the nose and mouth in babies with a cleft palate, but it can happen every time they drink and not just when they laugh.

Breastfeeding an infant with a cleft

1. Infants with CP must squeeze the milk out of the nipple by compressing the nipple between the tongue and whatever portion of the palate that remains.

2. The mother should hold the infant in a semi-upright, straddle, or football position. She should support the breast by holding it between her thumb and middle finger, making sure that the infant's lower lip is turned out and the tongue is under the nipple.

3. If the infant cannot hold onto the nipple any more, the mother can collect the remaining milk using an electrical or manual breast pump or by squeezing the breast with both hands and can finish the feeding with collected milk in a bottle.

Feeding breast milk with a bottle

4. Particularly for infants with bilateral CLP, breastfeeding is not possible.

5. The mother can use a breast pump (an electric pump ensures the highest level of success). Then, she can feed the baby with a bottle . Feeding milk formula with a bottle

6. The most appropriate milk formula should be selected by a pediatrician or feeding specialist.

7. A variety of nipples and bottles are made specifically for infants with clefts. The goal is to find a nipple and bottle that make feeding easy for the infant and still allow ample opportunity to suck.

8. A soft nipple is generally better than a hard nipple (some can be softened by boiling).

9. The bottle should be squeezed and released, not continually squeezed.

10. The nipple is angled to a side of the mouth, away from the cleft.

Gaining weight and preventing aspiration and ear infections are the most important parts of caring for neonates with a cleft during their first days and weeks of life.

Operative details

The ideal lip repair results in symmetrically shaped nostrils, nasal sill, and alar bases; a well-defined philtral dimple and columns; and a natural appearing Cupid's bow with a pout to the vermilion tubercle. In addition, it results in a functional muscle repair that with animation mimics a normal lip. While ideally the lip scars approximate natural landmarks, ultimately the eye first focuses on symmetry and then normal contours of the lip at rest and in animation.

A number of surgical procedures for the repair of a unilateral cleft lip are well described, with a multitude of variations. Millard first described the rotation-advancement method in 1955, as today it is perhaps the most commonly adapted repair of cleft lip.

The rotation-advancement method of Millard advances a mucocutaneous flap from the lateral lip element into the gap of the upper portion of the lip resulting from the inferior downward rotation of the medial lip element. The repair attempts to place the lip scars along anatomic lines of the philtral column and nasal sill.

General health and the developmental status of child play a role in the timing of the palate repair and are also important for anaesthetic and surgical management. Audiologic evaluation is routinly obtained preoperatively so that the otolaryngologist can place ventilation tubes in the tympanic membranes if indicated. In general all techniques use some form of mucoperiosteal flap for hard palate closure. Essence of push back repair (Veau-Wardill-Kilner) is V to Y incision and closure on the hard palate.

A guide for cleft lip/palate patiens care

The Neonatal Period

Pediatrician:

directs care

establishes feeding

complete clefts preclude feeding

• breast feeding not possible

• a soft, large bottle with large hole is required

• a palatal prosthesis may be required

Presurgical Orthodontics (Baby Plates)

• early presurgical orthopedics

• molds palate into more anatomically correct position

• decreases tension

• may improve facial growth

Surgical Repair

Cleft Lip

“the rule of tens” –

10 wks, 10 lbs, Hgb 10, White Blood Cell Count below 10 000

Lip adhesion or baby plates

Cleft Palate

Varies from 6-18 months - most around 12 month

Early repair may lead to midface retrusion

Early repair improves speech The Toddler Years

Priority: Speech evaluation

“Cleft errors of speech” in 30%

primary defects - due to VPI (hypernasality)

• consonants are most difficult sounds (plosives)

secondary defects - due to attempted correction

• glottic stops, nasal grimace

Velopharyngeal insufficiency

diagnosed by fiberoptic laryngoscopy

surgical repair after failed speech therapy - usually around age 4

Growth hormone deficiency evaluating

40 times more common in CL/P

suspects when below 5% on growth chart The Grade School Years

Three primary issues

Orthodontics

poor occlusion

congenitally absent teeth

alveolar bone grafting

fills alveolar defect - around age 7-9

psychological growth

considered standard of care The Teenage Years

Midface retrusion

etiology - early palatal repair

surgical correction around age 18

Psychological development

counseling standard of care

Rhinoplasty

usually last procedure performed, around age 17-18 Surgical Techniques

Cleft Lip Repair ( unilateral )

rotation-advancement flap (Millard method)

Cleft Lip Repair ( bilateral )

bilateral rotation advancement with attachment to premaxilla mucosa

Velopharyngeal Incompetnece

superior based pharyngeal flap

sphincter pharyngoplasty

• palatopharyngeus

Alveolar Bone Grafting

iliac crest bone graft

Midfacial Advancement

LeForte osteotomies

leave vascular pedicle attached in back of maxilla - prevents necrosis

Rhinoplasty Otologic Disease

>90%

• palatal repair restores ET function.